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冠状动脉粥样硬化性心脏病(Coronary heart disease,CHD)的全基因组扫描研究在世界各大研究中心展开,关于CHD易感基因位点的报道多集中于1号、3号、9号、11号、16号染色体,对8号染色体的研究报道甚少。在汉族人群中未见关于CHD的8号染色体的基因扫描研究。文章旨在查找汉族人群中CHD易感基因位点,选取8号染色体上间隔10 cM遗传距离的13个微卫星遗传位点,采用DNA混合池的方法对CHD患者组156例和正常对照组1 000例DNA样本进行基因扫描,经卡方检验分析患者组和对照组每个位点的等位基因频率差异。发现在患者组与对照组中D8S264位点(8p23.3-p23.2)及D8S285位点(8q12.1)的等位基因频率差异有统计学意义(P<0.05)。汉族人群中CHD患者8号染色体上8p23.3-p23.2、8q12.1区域可能存在CHD易感基因,需要进行候选基因突变筛查。
Whole-genome scanning of coronary heart disease (CHD) has been carried out in major research centers all over the world. The reports of CHD susceptibility loci are mostly concentrated on the 1st, 3rd, 9th, 11th No. 16 chromosome on chromosome 8 rarely reported. No genetic scan study of CHD chromosome 8 was found in the Han population. The aim of this study was to identify CHD susceptibility loci in Han population, select 13 microsatellite loci on chromosome 8 with genetic distances of 10 cM, and use DNA hybridization pool to detect 156 CHD patients and 1 normal control group 000 DNA samples were subjected to gene scanning. The differences in allele frequency at each locus between the patient group and the control group were analyzed by chi-square test. The allele frequencies of D8S264 (8p23.3-p23.2) and D8S285 (8q12.1) were found to be significantly different between the patient group and the control group (P <0.05). Han population CHD patients on chromosome 8 8p23.3-p23.2, 8q12.1 areas may exist CHD susceptibility genes, screening for candidate mutations.